List of variants in gene TTR reported by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_000371.4(TTR):c.424G>A (p.Val142Ile)	rs76992529	0.00501
NM_000371.4(TTR):c.416C>T (p.Thr139Met)	rs28933981	0.00177
NM_000371.4(TTR):c.360C>T (p.Ser120=)	rs150127220	0.00128
NM_000371.4(TTR):c.417G>A (p.Thr139=)	rs2276382	0.00104
NM_000371.4(TTR):c.3_11del	rs143948820	0.00076
NM_000371.4(TTR):c.328C>A (p.His110Asn)	rs121918074	0.00040
NM_000371.4(TTR):c.190T>C (p.Phe64Leu)	rs138065384	0.00019
NM_000371.4(TTR):c.368G>A (p.Arg123His)	rs148538950	0.00019
NM_000371.4(TTR):c.371G>A (p.Arg124His)	rs121918095	0.00019
NM_000371.4(TTR):c.14G>A (p.Arg5His)	rs138657343	0.00017
NM_000371.4(TTR):c.384C>T (p.Ala128=)	rs143906738	0.00015
NM_000371.4(TTR):c.354C>T (p.Asn118=)	rs11541797	0.00009
NM_000371.4(TTR):c.385G>A (p.Ala129Thr)	rs267607159	0.00005
NM_000371.4(TTR):c.148G>A (p.Val50Met)	rs28933979	0.00004
NM_000371.4(TTR):c.370C>T (p.Arg124Cys)	rs745834030	0.00003
NM_000371.4(TTR):c.405C>G (p.Ser135=)	rs760153126	0.00003
NM_000371.4(TTR):c.431A>G (p.Asn144Ser)	rs144965179	0.00003
NM_000371.4(TTR):c.367C>T (p.Arg123Cys)	rs371566010	0.00001
NM_000371.4(TTR):c.*8C>A
NM_000371.4(TTR):c.201-8C>A
NM_000371.4(TTR):c.231G>A (p.Gly77=)	rs1555631396
NM_000371.4(TTR):c.231del (p.Leu78fs)
NM_000371.4(TTR):c.302C>T (p.Ala101Val)	rs1555631417
NM_000371.4(TTR):c.356A>C (p.Asp119Ala)	rs761127889
NM_000371.4(TTR):c.358T>C (p.Ser120Pro)	rs76591836
NM_000371.4(TTR):c.385G>T (p.Ala129Ser)	rs267607159
NM_000371.4(TTR):c.62G>C (p.Gly21Ala)	rs1469623969
NM_000371.4(TTR):c.70-7C>T	rs587780990

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